Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Fiorella Shabtai"'
Publikováno v:
Clinical Genetics. 19:87-93
A 14-month-old boy with a 49,XYYYY karyotype is reported. The physical examination revealed unusual facial features, brachydactyly with clinodactyly, limitation of supination at the left elbow, and inguinal hernia. Radiological abnormalities of the s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d85a2d2df7c1c05143cf1bff8a0b0f6
https://doi.org/10.1111/j.1399-0004.1981.tb00676.x
https://doi.org/10.1111/j.1399-0004.1981.tb00676.x
Publikováno v:
Clinical Genetics. 16:178-182
Paroxysmal nocturnal hemoglobinuria (PNH) is considered to be a clonal disorder, although most investigations have failed to show chromosomal abnormalities. The present patient suffered from PNH and exhibited in bone marrow cells two abnormal clones
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79b8605877930fe1ea18f11bfef529e9
https://doi.org/10.1111/j.1399-0004.1979.tb00988.x
https://doi.org/10.1111/j.1399-0004.1979.tb00988.x
Publikováno v:
Clinical Genetics. 9:134-142
The case of a 40-year-old patient with congenital trisomy 8 and sex chromosome mosaicism is discussed. The main clinical features were: mental retardation, thick and darkly pig-mented skin, prominent forehead, convergent strabismus, high arched palat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90ad3ab7fe9173b4b45a1fbd7b5641cf
https://doi.org/10.1111/j.1399-0004.1976.tb01559.x
https://doi.org/10.1111/j.1399-0004.1976.tb01559.x
Publikováno v:
American Journal of Medical Genetics. 37:182-185
We report on a new case of duplication of the proximal part of the long arm of chromosome 21. The proposita presents normal mental development, no trisomy 21 manifestations; on the contrary, she had a few monosomy 21-like stigmata. She gave birth to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a89d3feadc7305ba3294800283ebabda
https://doi.org/10.1002/ajmg.1320370736
https://doi.org/10.1002/ajmg.1320370736
Autor:
Fiorella Shabtai, Isaac Halbrecht
Publikováno v:
Clinical Genetics. 18:93-95
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69a7ac091c41168fad0f9b99b7f7b4a9
https://doi.org/10.1111/j.1399-0004.1980.tb01372.x
https://doi.org/10.1111/j.1399-0004.1980.tb01372.x
Autor:
Lisbeth Tranebjerg, Zeynep Tümer, Iben Bache, Maria Orera, Vera M. Kalscheuer, Elisabeth Blennow, Val Davison, Klaus Wagner, David R. FitzPatrick, Isidora Lopez-Pajares, Laurence Duprez, Maj Hultén, Sultan Cingoz, Sophie Dahoun, Niels Tommerup, Margarita Stefanova, Ingo Hansmann, Jan Murken, Maryse Bonduelle, Bruno Dallapiccola, M.-F. Croquette, Tony Parkin, Kirsten Winther, Kim Smith, Fiorella Shabtai, Kirsten Rasmussen, Catherine Turleau, Claes Lundsteen, Anita Niebuhr, Elvire Van Assche, Gotthold Barbi, Eberhard Schwinger, Carl Birger van der Hagen, Bruno Delobel, Philippe Jonveaux, Nadja Kokalj Vokac, Peter Jensen, Inge Liebaers, Mads F. Hjorth, Georges Bourrouillou, Merete Bugge, Carmen Ramos, Regine Schubert, Leopoldo Zelante, Werner Schempp, Eberhard Passarge, Carmen Ayuso, Herman Tournaye, James Lespinasse, Malcolm A. Ferguson-Smith, Ulf Kristoffersson, Jan Wahlstroem, Gert Bruun-Petersen, Hans-Christoph Duba, Karen Brøndum-Nielsen, Michel Vekemans, Elizabeth Grace, Raymond L. Stallings, Jean McGowan-Jordan
Publikováno v:
University of Copenhagen
In a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced rearrangement from Mendelian Cytogenetics Network database (MCNdb) and compared their karyot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45e7b3a73407cfbd694bd1f4fa97aaa8
https://avesis.deu.edu.tr/publication/details/290330f0-f425-49bd-b49a-b4246cce8d2e/oai
https://avesis.deu.edu.tr/publication/details/290330f0-f425-49bd-b49a-b4246cce8d2e/oai
Publikováno v:
Clinical Genetics. 27:110-111
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c86a2ba6519c030aaa6dd40ab0800e0c
https://doi.org/10.1111/j.1399-0004.1985.tb00194.x
https://doi.org/10.1111/j.1399-0004.1985.tb00194.x
Publikováno v:
Diseases of the colon and rectum. 37(12)
PURPOSE: The incidence of colorectal cancer in young adults (under 40 years of age) is rare. The reason for the occurrence in these patients may lie in their genetic background. METHODS: We studied chromosomal fragility in peripheral blood lymphocyte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17e84b80c84f567493fa79db69ea44aa
https://pubmed.ncbi.nlm.nih.gov/7527751
https://pubmed.ncbi.nlm.nih.gov/7527751
Publikováno v:
World journal of surgery. 15(6)
Banded cytogenetic studies of gastric carcinoma are still relatively scarce, comprised of only a small number of patients. This study was performed on peripheral blood lymphocytes and malignant cells of 16 patients with gastric carcinoma. The lymphoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec0ad3307e388fbb40b77405320bf160
https://pubmed.ncbi.nlm.nih.gov/1767545
https://pubmed.ncbi.nlm.nih.gov/1767545
Publikováno v:
The Journal of urology. 146(3)
We describe a neonate who presented with multiple severe malformations including polyorchidism. To our knowledge this is the second case reported with ipsilateral testes located intra-abdominally. Chromosomal studies in cases of polyorchidism have be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b141c1e6609d68518d69994f084854b1
https://pubmed.ncbi.nlm.nih.gov/1875504
https://pubmed.ncbi.nlm.nih.gov/1875504